Barros Andreia, Teixeira Filomena, Camacho Maria Carmo, Alves Cristina
Department of Pediatrics, Hospital Nélio Mendonça, Funchal, Portugal.
BMJ Case Rep. 2011 Jun 9;2011:bcr0420114112. doi: 10.1136/bcr.04.2011.4112.
Campomelic dysplasia (CD) is a rare clinical entity, usually fatal in the first year of life. It is characterised by bowing and angulations of long bones, along with other congenital anomalies. The occurrence of malignant hyperthermia is rare, but it has been associated with skeletal dysplasias. The authors present the case of a boy, born at 40 weeks of gestational age, with multiple congenital anomalies and subsequently diagnosed with CD, who died at 16 months of age as a consequence of malignant hyperthermia.
弯肢侏儒症（CD）是一种罕见的临床病症，通常在出生后第一年致命。其特征为长骨弯曲和成角，以及其他先天性异常。恶性高热的发生较为罕见，但它与骨骼发育异常有关。作者报告了一例孕40周出生的男孩病例，该男孩有多种先天性异常，随后被诊断为弯肢侏儒症，16个月时因恶性高热死亡。
